Peutz-Jeghers Syndrome with Intussusception and Anemia.

, Hwang, Jeong Kye; , Kang, Won Kyung; , Lee, Sang Chul; , Lee, Yoon Suk; , Park, Seung Man; , Rha, Sung Eun; , Oh, Seong Taek

Case Report

Journal of the Korean Society of Coloproctology 2004;20(4):231-235.

Hwang, Jeong Kye , Kang, Won Kyung , Lee, Sang Chul , Lee, Yoon Suk , Park, Seung Man , Rha, Sung Eun , Oh, Seong Taek

¹Departments of Surgery, College of Medicine, The Catholic University of Korea, Seoul, Korea. stoh@catholic.ac.kr
²Departments of Radiology, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Abstract

Peutz-Jeghers syndrome is a disease entity consisting of gastrointestinal hamartoma, mucocutaneous pigmentation, and autosomal dominant inheritance. From a surgical standpoint, the syndrome is of significance because the hamartoma may lead to intussusception, gastrointestinal bleeding, abdominal pain, and a fifteen-times-increased risk of malignancy in the GI tract, pancreas, breast, ovarles, and testes. Recent reports indicate the STK11 (LKB1) gene, located on region 13.3 of the short arm of chromosome 19, as being the locus of autosomal dominant indentify. The case of a 21-year-old female who required a partial jejunal resection due to intussusception and bleeding from a jejunal hamartoma twice in five years is presented.

Key Words: Peutz-Jeghers syndrome; Anemia; Intussusception; Hamartoma